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NIH-Funded Study May Help Explain Why Disease is Confined to the Esophagus

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WHAT:Scientists funded by the National Institutes of Health (NIH) have identified genetic markers associated with eosinophilic esophagitis (EoE), an inflammatory disease characterized by high levels of immune cells called eosinophils in the esophagus. Their findings suggest that several genes are involved in the development of EoE, which can cause difficulty eating and often is associated with food allergies. The findings also may help explain why the disease specifically affects the esophagus. The work was supported in part by the Consortium of Food Allergy Research, which is funded by NIH’s National Institute of Allergy and Infectious Diseases and National Institute of Diabetes and Digestive and Kidney Diseases.

A team led by researchers at Cincinnati Children’s Hospital Medical Center searched the entire human genome for variations between 9,246 healthy people and 736 people with EoE. They confirmed previous results from a smaller study that linked variations in the region on chromosome 5 containing TSLP, a gene associated with allergic diseases, to a higher risk of developing EoE. They also identified variations in a region on chromosome 2 containing a gene called CAPN14, which produces an enzyme called calpain 14, that are associated with higher EoE risk. The researchers showed that CAPN14 is expressed, or “turned on,” primarily in the esophagus. CAPN14 expression and calpain activity rose when scientists treated cultured esophageal cells with a molecule that induces allergic inflammation, suggesting that the enzyme is part of an anti-inflammatory response. People with EoE who carry the variant form of the gene may be unable to mount this response as effectively.

Further research is needed to determine if these findings might lead to identification of biomarkers to detect a person’s risk of developing EoE. Understanding the factors underlying EoE may help guide development of new diagnostic and treatment strategies for the disease.

WHO:Marshall Plaut, M.D., chief of the Food Allergy, Atopic Dermatitis and Allergic Mechanisms Section in NIAID’s Division of Allergy, Immunology and Transplantation, is available to discuss the findings.

Additional funding for this study was provided by the National Heart, Lung and Blood Institute; the National Human Genome Research Institute; and the National Center for Advancing Translational Sciences, all components of NIH, and other sources.

NIAID conducts and supports research—at NIH, throughout the United States, and worldwide—to study the causes of
infectious and immune-mediated diseases, and to develop better means of preventing, diagnosing and treating these illnesses. News releases, fact sheets and other NIAID-related materials are available on the NIAID website.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S.
Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research,
and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.